ClinVar for MedGen (Select 481846) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 636234	NM_000458.4(HNF1B):c.458A>G (p.His153Arg)	HNF1B (H153R)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +1 more	GConflicting classifications of pathogenicity
Select item 446150	NM_000458.4(HNF1B):c.230_233del (p.Asp77fs)	HNF1B (D77fs)	Deletion (frameshift variant)	Renal cysts and diabetes syndrome +1 more	GPathogenic